MEDomics Announces MitoDx(TM), the First NextGen Mitochondrial Genome Diagnostic Test
Highly Sensitive Genetic Test Provides Early Diagnosis of Mitochondrial Diseases
Disease from mutations in mitochondrial DNA is now thought to be common in both adults and children. In childhood, mitochondrial disease is more common than muscular dystrophy or cancer. Most mitochondrial disease may go undiagnosed because a primary care physician does not suspect the disease or because the causative mutation is missed by current methods.
“To my knowledge, MEDomics is the first laboratory to offer a whole genome clinical diagnostic test utilizing the powerful NextGen sequencing technique,” says Steve S Sommer, MD, PhD, Founder and President of MEDomics.
Mitochondria are the “power plants” of the cell, providing energy for cellular processes, including growth, and metabolism. Mutations in mitochondrial genes may decrease energy production and affect multiple organs. Since cells contain hundreds of mitochondrial DNA molecules, any particular tissue may contain mitochondrial DNA molecules that are all identical, or there may be a fraction that differs. When both normal and mutant molecules exist, the mitochondria are said to be “heteroplasmic.” The heteroplasmic fraction of mutations can differ substantially among tissues.
It is critical to detect heteroplasmy sensitively, since even low levels in blood, which is routinely tested, may reveal disease affecting other organs. Such low levels of heteroplasmy in blood are generally not detected by standard methods, but are detected by the MEDomics test utilizing NextGen sequencing technology. The error rate determines how small a mutant fraction is reliably detected. MEDomics uses the Applied Biosystems SOLiD(TM) 3 NextGen sequencing platform which has an exceptionally low error rate, allowing detection of heteroplasmy down to about 1%.
The MEDomics NextGen mitochondrial genome test can help diagnose mitochondrial disease, enabling life-saving therapy decisions and allowing for accurate family risk counseling.
MEDomics is a molecular diagnostic laboratory founded in 2008 by
Dr. Sommer is a Founding Fellow of the American College of Medical Genetics with 25 years experience in Clinical Molecular Diagnosis and over 300 scientific publications and patents. During the past few years, his personalized cancer genetics research and clinical team, including
SOURCE MEDomics, LLC